rs267607538

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs267607538(C;G)

Make rs267607538(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

24956451

Gene

NEFL

is a	snp
is	mentioned by
dbSNP	rs267607538
dbSNP (classic)	rs267607538
ClinGen	rs267607538
ebi	rs267607538
HLI	rs267607538
Exac	rs267607538
Gnomad	rs267607538
Varsome	rs267607538
LitVar	rs267607538
Map	rs267607538
PheGenI	rs267607538
Biobank	rs267607538
1000 genomes	rs267607538
hgdp	rs267607538
ensembl	rs267607538
geneview	rs267607538
scholar	rs267607538
google	rs267607538
pharmgkb	rs267607538
gwascentral	rs267607538
openSNP	rs267607538
23andMe	rs267607538
SNPshot	rs267607538
SNPdbe	rs267607538
MSV3d	rs267607538
GWAS Ctlg	rs267607538

Max Magnitude

0

ClinVar
Risk	rs267607538(A;A) rs267607538(G;G)
Alt	rs267607538(A;A) rs267607538(G;G)
Reference	Rs267607538(C;C)
Significance	Pathogenic
Disease	Charcot-Marie-Tooth disease not provided Charcot-Marie-Tooth disease type 2E
Variation	info
Gene	NEFL
CLNDBN	Charcot-Marie-Tooth disease, demyelinating, type 1f not provided Charcot-Marie-Tooth disease type 2E
Reversed	1
HGVS	NC_000008.10:g.24813965G>C; NC_000008.10:g.24813965G>T
CLNSRC	ClinVar Epithelial Biology GeneReviews
CLNACC	RCV000034139.2, RCV000057145.1, RCV000205038.1,